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Ataxia - oculomotor apraxia type 1
1 OMIM reference -
1 associated gene
11 connected diseases
4 signs/symptoms
Disease Type of connection
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
MULIBREY nanism
Nestor-Guillermo progeria syndrome
Synonym(s):
- AOA1
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
APTX Q7Z2E3606350
Very frequent
- Abnormal gait
- Ataxia / incoordination / trouble of the equilibrium
- Flared eyebrows
- Functional anomalies of the nervous system